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NM_000116.5(TAFAZZIN):c.639G>A (p.Trp213Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 19, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000598838.1

Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.639G>A (p.Trp213Ter)]

NM_000116.5(TAFAZZIN):c.639G>A (p.Trp213Ter)

Gene:
TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000116.5(TAFAZZIN):c.639G>A (p.Trp213Ter)
HGVS:
  • NC_000023.11:g.154420087G>A
  • NG_009634.1:g.13550G>A
  • NG_009634.2:g.13553G>A
  • NM_000116.5:c.639G>AMANE SELECT
  • NM_001303465.2:c.651G>A
  • NM_181311.4:c.549G>A
  • NM_181312.4:c.597G>A
  • NM_181313.4:c.507G>A
  • NP_000107.1:p.Trp213Ter
  • NP_001290394.1:p.Trp217Ter
  • NP_851828.1:p.Trp183Ter
  • NP_851829.1:p.Trp199Ter
  • NP_851830.1:p.Trp169Ter
  • LRG_131t1:c.639G>A
  • LRG_131:g.13553G>A
  • LRG_131p1:p.Trp213Ter
  • NC_000023.10:g.153648426G>A
  • NM_000116.3:c.639G>A
  • NR_024048.3:n.960G>A
Protein change:
W169*
Links:
dbSNP: rs1557194077
NCBI 1000 Genomes Browser:
rs1557194077
Molecular consequence:
  • NR_024048.3:n.960G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000116.5:c.639G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001303465.2:c.651G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181311.4:c.549G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181312.4:c.597G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181313.4:c.507G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000710706GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Feb 19, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000710706.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The W213X variant in the TAZ gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W213X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W213X as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022